Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.

association (GWA) studies have identified 19 independent genome loci general risk for endometriosis. Most variants of GWA is non-coding and the gene responsible for the association signal has not been identified. Here, we aimed to assess the potential role of protein-modified variant of endometriosis using exome genotyping arrays in 7164 cases and 21 005 controls, and a set of replication of 1840 cases and 129 016 controls of European descent.

The results in the discovery of samples identified significant evidence for association with coding variants in the variant (rs1801232-CUBN) and gene-level (CIITA and PARP4) meta-analysis, but this did not last replication. In the combined analysis, there is a genome-wide significant evidence for rs13394619 (P = 2.3 × 10-9) in GREB1 at 2p25.1 – GWA loci previously identified in a meta-analysis of European and Japanese samples.

Despite considerable power, our results do not identify variants of a protein-modifying (MAF >> 0.01) with moderate or large effect sizes in endometriosis, although this variant may be present in non-European populations or in high-risk families. The results indicate continued efforts should focus on the discovery of a large number of surgical cases genotype-confirmed endometriosis and controls, and / or high-risk families sequencing to identify rare variants new to provide greater insight into the molecular pathogenesis of the disease.


The role of the base excision repair (BER) gene on the Philadelphia-negative (PN) -myeloproliferative neoplasms (MPNs) susceptibility genotypes were evaluated with eight polymorphisms [apurinic / apyrimidinic endodeoxyribonuclease 1, mutY glikosilase DNA, previously mutY homolog (E. coli) (MUTYH) 8-oxoguanine DNA glikosilase 1, poly (ADP-ribose) polymerase (PARP) 1, PARP4 and X-ray repair cross complement 1 (XRCC1)] in a case-control study involving 133 patients of Caucasian Portuguese. The results did not reveal a correlation between polymorphisms of individual BER and PN-MPNs when considered as a whole.

However, stratification for essential thrombocythaemia disclose i) the effect of the limit / tendency to increased risk when carrying at least one variant allele for XRCC1_399 single nucleotide polymorphism (SNP); ii) reduction in risk for the Janus kinase 2-positive patients carrying at least one variant allele of SNP XRCC1_399; and iii) reduced risk in women who carry at least one variant allele of SNP MUTYH.

Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.
Analysis of potential protein-modifying variants in 9000 endometriosis patients and 150000 controls of European ancestry.

Known and novel mutations in cancer susceptibility genes in Young Patients with Pancreatic Cancer.

BACKGROUND
Pancreatic cancer is the fourth most common cause of cancer deaths, globally. It has a poor prognosis and is usually diagnosed at later stages when the tumor resection is not possible. Heritability for pancreatic cancer are relatively high and clinically significant.


METHOD
A group of 24 patients with pancreatic cancer at a young age at onset, of the main referral hospital in Tehran University of Medical Sciences were screened for mutations in 710 cancer relevant genes using next-generation sequencing technology.

RESULTS
Two patients had pathogenic mutations in genes known pancreatic cancer susceptibility, BRCA1 / 2 Two other patients also have potentially pathogenic mutations in two new gene candidates including PARP4 and EXO1.


CONCLUSION
BRCA1 / 2 genes most frequently mutated pancreatic cancer susceptibility genes that should be considered in all cases of pancreatic cancer at a young age at onset or a family history of cancer. PARP4 and EXO1 also is a potential candidate gene for susceptibility to pancreatic cancer.

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

RD-PARP4-Hu-48Tests 48 Tests
EUR 625.2

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

RD-PARP4-Hu-96Tests 96 Tests
EUR 867.6

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

RDR-PARP4-Hu-48Tests 48 Tests
EUR 652.8

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

RDR-PARP4-Hu-96Tests 96 Tests
EUR 907.2

PARP4 Antibody

DF2386 200ul
EUR 420

PARP4 siRNA

20-abx927766
  • EUR 661.20
  • EUR 878.40
  • 15 nmol
  • 30 nmol

PARP4 Antibody

1-CSB-PA007321
  • EUR 266.40
  • EUR 234.00
  • 100ug
  • 50ug
Description: A polyclonal antibody against PARP4. Recognizes PARP4 from Human. This antibody is Unconjugated. Tested in the following application: IHC, ELISA;IHC:1/100-1/300.ELISA:1/10000

PARP4 Antibody

1-CSB-PA947926
  • EUR 380.40
  • EUR 292.80
  • 100ul
  • 50ul
Description: A polyclonal antibody against PARP4. Recognizes PARP4 from Human. This antibody is Unconjugated. Tested in the following application: ELISA, IHC;ELISA:1:1000-1:2000, IHC:1:25-1:100

PARP4 antibody

70R-33845 100 ug
EUR 392.4
Description: Rabbit polyclonal PARP4 antibody

PARP4 Antibody

37796-100ul 100ul
EUR 302.4

PARP4 antibody

10R-1680 100 ug
EUR 614.4
Description: Mouse monoclonal PARP4 antibody

PARP4 Antibody

ABD2386 100 ug
EUR 525.6

anti-PARP4

YF-PA23186 50 ul
EUR 400.8
Description: Mouse polyclonal to PARP4

PARP4 Rabbit pAb

A8343-100ul 100 ul
EUR 369.6

PARP4 Rabbit pAb

A8343-200ul 200 ul
EUR 550.8

PARP4 Rabbit pAb

A8343-20ul 20 ul
EUR 219.6

PARP4 Rabbit pAb

A8343-50ul 50 ul
EUR 267.6

PARP4 Blocking Peptide

DF2386-BP 1mg
EUR 234

PARP4 Conjugated Antibody

C37796 100ul
EUR 476.4

PARP4 Rabbit pAb

A16749-100ul 100 ul
EUR 369.6

PARP4 Rabbit pAb

A16749-200ul 200 ul
EUR 550.8

PARP4 Rabbit pAb

A16749-20ul 20 ul
EUR 219.6

PARP4 Rabbit pAb

A16749-50ul 50 ul
EUR 267.6

Anti-PARP4 antibody

STJ110641 100 µl
EUR 332.4
Description: This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus.

Anti-PARP4 antibody

STJ119167 100 µl
EUR 332.4

Human PARP4 shRNA Plasmid

20-abx950100
  • EUR 961.20
  • EUR 1345.20
  • 150 µg
  • 300 µg

PARP4 ELISA KIT|Human

EF007039 96 Tests
EUR 826.8

PARP4 ELISA Kit (Human) (OKCD08347)

OKCD08347 96 Wells
EUR 1170
Description: Description of target: This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus.;Species reactivity: Human;Application: ELISA;Assay info: ;Sensitivity: < 0.061ng/mL

PARP4 ELISA Kit (Human) (OKDD00456)

OKDD00456 96 Wells
EUR 1170
Description: Description of target: This gene encodes poly(ADP-ribosyl)transferase-like 1 protein, which is capable of catalyzing a poly(ADP-ribosyl)ation reaction. This protein has a catalytic domain which is homologous to that of poly (ADP-ribosyl) transferase, but lacks an N-terminal DNA binding domain which activates the C-terminal catalytic domain of poly (ADP-ribosyl) transferase. Since this protein is not capable of binding DNA directly, its transferase activity may be activated by other factors such as protein-protein interaction mediated by the extensive carboxyl terminus.;Species reactivity: Human;Application: ;Assay info: Quantitative Sandwich ELISA;Sensitivity: < 0.061 ng/mL

PARP4 ORF Vector (Human) (pORF)

ORF027423 1.0 ug DNA
EUR 486

Parp4 ORF Vector (Mouse) (pORF)

ORF053400 1.0 ug DNA
EUR 1886.4

PARP4, His-GST-Tag Recombinant

11394 50 µg
EUR 280
Description: Recombinant human PARP4 (poly(ADP-ribose) polymerase family member 4), encompassing amino acids 2-700. This construct contains an N-terminal His-tag (6xHis) followed by a GST-tag and a Thrombin Cleavage sight to facilitate removal of the GST-tag. This recombinant protein was affinity purified.  

PARP4-AS1 ORF Vector (Human) (pORF)

ORF027424 1.0 ug DNA Ask for price

PARP4 sgRNA CRISPR Lentivector set (Human)

K1595801 3 x 1.0 ug
EUR 406.8

Parp4 sgRNA CRISPR Lentivector set (Mouse)

K4858201 3 x 1.0 ug
EUR 406.8

Poly ADP Ribose Polymerase 4 (PARP4) Antibody

20-abx174132
  • EUR 1028.40
  • EUR 526.80
  • 1 mg
  • 200 ug

Poly ADP Ribose Polymerase 4 (PARP4) Antibody

abx147654-100ug 100 ug
EUR 526.8

Poly ADP Ribose Polymerase 4 (PARP4) Antibody

20-abx119585
  • EUR 376.80
  • EUR 117.60
  • EUR 477.60
  • EUR 594.00
  • 100 ug
  • 10 ug
  • 200 ug
  • 300 µg

Poly ADP Ribose Polymerase 4 (PARP4) Antibody

20-abx128291
  • EUR 510.00
  • EUR 159.60
  • EUR 1446.00
  • EUR 693.60
  • EUR 393.60
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Poly ADP Ribose Polymerase 4 (PARP4) Antibody

20-abx006130
  • EUR 493.20
  • EUR 710.40
  • EUR 218.40
  • EUR 376.80
  • 100 ul
  • 200 ul
  • 20 ul
  • 50 ul

Poly ADP Ribose Polymerase 4 (PARP4) Antibody

20-abx339348
  • EUR 493.20
  • EUR 360.00
  • 100 ul
  • 50 ul

Poly ADP Ribose Polymerase 4 (PARP4) Antibody

20-abx322903
  • EUR 376.80
  • EUR 292.80
  • 100 ug
  • 50 ug

PARP4 sgRNA CRISPR Lentivector (Human) (Target 1)

K1595802 1.0 ug DNA
EUR 184.8

PARP4 sgRNA CRISPR Lentivector (Human) (Target 2)

K1595803 1.0 ug DNA
EUR 184.8

PARP4 sgRNA CRISPR Lentivector (Human) (Target 3)

K1595804 1.0 ug DNA
EUR 184.8

Parp4 sgRNA CRISPR Lentivector (Mouse) (Target 1)

K4858202 1.0 ug DNA
EUR 184.8

Parp4 sgRNA CRISPR Lentivector (Mouse) (Target 2)

K4858203 1.0 ug DNA
EUR 184.8

Parp4 sgRNA CRISPR Lentivector (Mouse) (Target 3)

K4858204 1.0 ug DNA
EUR 184.8

PARP4 Protein Vector (Human) (pPB-C-His)

PV109690 500 ng Ask for price

PARP4 Protein Vector (Human) (pPB-N-His)

PV109691 500 ng Ask for price

PARP4 Protein Vector (Human) (pPM-C-HA)

PV109692 500 ng Ask for price

PARP4 Protein Vector (Human) (pPM-C-His)

PV109693 500 ng Ask for price

PARP4 Protein Vector (Mouse) (pPB-C-His)

PV213598 500 ng
EUR 3902.4

PARP4 Protein Vector (Mouse) (pPB-N-His)

PV213599 500 ng
EUR 3902.4

PARP4 Protein Vector (Mouse) (pPM-C-HA)

PV213600 500 ng
EUR 3902.4

PARP4 Protein Vector (Mouse) (pPM-C-His)

PV213601 500 ng
EUR 3902.4

Parp4 3'UTR GFP Stable Cell Line

TU165923 1.0 ml Ask for price

Recombinant Poly ADP Ribose Polymerase 4 (PARP4)

4-RPC984Hu01
  • EUR 550.08
  • EUR 271.20
  • EUR 1732.80
  • EUR 657.60
  • EUR 1195.20
  • EUR 444.00
  • EUR 4152.00
  • 100 ug
  • 10ug
  • 1 mg
  • 200 ug
  • 500 ug
  • 50ug
  • 5 mg
Description: Recombinant Human Poly ADP Ribose Polymerase 4 expressed in: E.coli

Parp4 3'UTR Luciferase Stable Cell Line

TU115923 1.0 ml Ask for price

PARP4 3'UTR GFP Stable Cell Line

TU067410 1.0 ml
EUR 1672.8

PARP4 3'UTR Luciferase Stable Cell Line

TU017410 1.0 ml
EUR 1672.8

Human Poly ADP Ribose Polymerase 4 (PARP4) Protein

20-abx166526
  • EUR 777.60
  • EUR 326.40
  • EUR 2331.60
  • EUR 910.80
  • EUR 560.40
  • 100 ug
  • 10 ug
  • 1 mg
  • 200 ug
  • 50 ug

Human PARP4(Poly ADP Ribose Polymerase 4) ELISA Kit

EH3510 96T
EUR 628.92
Description: Method of detection: Double Antibody, Sandwich ELISA;Reacts with: Homo sapiens;Sensitivity: 0.094 ng/ml

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

20-abx152651
  • EUR 8853.60
  • EUR 4719.60
  • EUR 1093.20
  • 10 × 96 tests
  • 5 × 96 tests
  • 96 tests

Human Poly ADP Ribose Polymerase 4 (PARP4) CLIA Kit

abx197521-96tests 96 tests
EUR 990

Chicken Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

abx355780-96tests 96 tests
EUR 990

Rabbit Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

abx363456-96tests 96 tests
EUR 990

Monkey Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

abx358874-96tests 96 tests
EUR 990

Pig Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

abx360853-96tests 96 tests
EUR 990

Human Poly ADP Ribose Polymerase 4 (PARP4) CLIA Kit

20-abx494031
  • EUR 9567.60
  • EUR 5095.20
  • EUR 1177.20
  • 10 × 96 tests
  • 5 × 96 tests
  • 96 tests

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

abx252901-96tests 96 tests
EUR 848.4

Human Poly [ADP- ribose] polymerase 4, PARP4 ELISA KIT

ELI-12310h 96 Tests
EUR 988.8

PARP4-AS1 Lentiviral Vector (Human) (CMV) (pLenti-GIII-CMV)

LV739631 1.0 ug DNA Ask for price

PARP4-AS1 Lentiviral Vector (Human) (UbC) (pLenti-GIII-UbC)

LV739635 1.0 ug DNA Ask for price

PARP4-AS1 Lentiviral Vector (Human) (EF1a) (pLenti-GIII-EF1a)

LV739636 1.0 ug DNA Ask for price

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human)

4-PAC984Hu01
  • EUR 296.40
  • EUR 3012.00
  • EUR 750.00
  • EUR 372.00
  • EUR 256.80
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4)

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

SEC984Hu-10x96wellstestplate 10x96-wells test plate
EUR 5677.8
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

SEC984Hu-1x48wellstestplate 1x48-wells test plate
EUR 572.76
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

SEC984Hu-1x96wellstestplate 1x96-wells test plate
EUR 766.8
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

SEC984Hu-5x96wellstestplate 5x96-wells test plate
EUR 3090.6
Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in Tissue homogenates and other biological fluids.

Human Poly ADP Ribose Polymerase 4 (PARP4) ELISA Kit

4-SEC984Hu
  • EUR 5738.40
  • EUR 3031.20
  • EUR 768.00
  • 10 plates of 96 wells
  • 5 plates of 96 wells
  • 1 plate of 96 wells
Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Poly ADP Ribose Polymerase 4 (PARP4) in samples from Tissue homogenates and other biological fluids. with no significant corss-reactivity with analogues from other species.

ELISA kit for Human PARP4 (Poly ADP Ribose Polymerase 4)

E-EL-H2420 1 plate of 96 wells
EUR 640.8
Description: A sandwich ELISA kit for quantitative measurement of Human PARP4 (Poly ADP Ribose Polymerase 4) in samples from Serum, Plasma, Cell supernatant

CLIA kit for Human PARP4 (Poly ADP Ribose Polymerase 4)

E-CL-H1422 1 plate of 96 wells
EUR 700.8
Description: A sandwich CLIA kit for quantitative measurement of Human PARP4 (Poly ADP Ribose Polymerase 4) in samples from Serum, Plasma, Cell supernatant

ELISA kit for Human PARP4 (Poly ADP Ribose Polymerase 4)

ELK3564 1 plate of 96 wells
EUR 518.4
Description: A sandwich ELISA kit for detection of Poly ADP Ribose Polymerase 4 from Human in samples from blood, serum, plasma, cell culture fluid and other biological fluids.

PARP4 sgRNA CRISPR/Cas9 All-in-One Lentivector set (Human)

K1595805 3 x 1.0 ug
EUR 451.2

Parp4 sgRNA CRISPR/Cas9 All-in-One Lentivector set (Mouse)

K4858205 3 x 1.0 ug
EUR 451.2

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human), APC

4-PAC984Hu01-APC
  • EUR 414.00
  • EUR 3930.00
  • EUR 1094.40
  • EUR 528.00
  • EUR 262.80
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4). This antibody is labeled with APC.

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human), Biotinylated

4-PAC984Hu01-Biotin
  • EUR 373.20
  • EUR 2952.00
  • EUR 872.40
  • EUR 457.20
  • EUR 262.80
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4). This antibody is labeled with Biotin.

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human), Cy3

4-PAC984Hu01-Cy3
  • EUR 502.80
  • EUR 5190.00
  • EUR 1410.00
  • EUR 654.00
  • EUR 301.20
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4). This antibody is labeled with Cy3.

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human), FITC

4-PAC984Hu01-FITC
  • EUR 355.20
  • EUR 3168.00
  • EUR 900.00
  • EUR 446.40
  • EUR 234.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4). This antibody is labeled with FITC.

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human), HRP

4-PAC984Hu01-HRP
  • EUR 379.20
  • EUR 3426.00
  • EUR 968.40
  • EUR 477.60
  • EUR 247.20
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4). This antibody is labeled with HRP.

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human), PE

4-PAC984Hu01-PE
  • EUR 355.20
  • EUR 3168.00
  • EUR 900.00
  • EUR 446.40
  • EUR 234.00
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4). This antibody is labeled with PE.

PARP4 sgRNA CRISPR/Cas9 All-in-One Lentivector (Human) (Target 1)

K1595806 1.0 ug DNA
EUR 200.4

PARP4 sgRNA CRISPR/Cas9 All-in-One Lentivector (Human) (Target 2)

K1595807 1.0 ug DNA
EUR 200.4

PARP4 sgRNA CRISPR/Cas9 All-in-One Lentivector (Human) (Target 3)

K1595808 1.0 ug DNA
EUR 200.4

Parp4 sgRNA CRISPR/Cas9 All-in-One Lentivector (Mouse) (Target 1)

K4858206 1.0 ug DNA
EUR 200.4

Parp4 sgRNA CRISPR/Cas9 All-in-One Lentivector (Mouse) (Target 2)

K4858207 1.0 ug DNA
EUR 200.4

Parp4 sgRNA CRISPR/Cas9 All-in-One Lentivector (Mouse) (Target 3)

K4858208 1.0 ug DNA
EUR 200.4

Poly ADP Ribose Polymerase 4 (PARP4) Polyclonal Antibody (Human), APC-Cy7

4-PAC984Hu01-APC-Cy7
  • EUR 685.20
  • EUR 7716.00
  • EUR 2046.00
  • EUR 912.00
  • EUR 382.80
  • 100ul
  • 10ml
  • 1ml
  • 200ul
  • 20ul
Description: A Rabbit polyclonal antibody against Human Poly ADP Ribose Polymerase 4 (PARP4). This antibody is labeled with APC-Cy7.

PARP4-AS1 Lentiviral Vector (Human) (CMV) (pLenti-GIII-CMV-C-term-HA)

LV739632 1.0 ug DNA Ask for price

PARP4-AS1 Lentiviral Vector (Human) (CMV) (pLenti-GIII-CMV-GFP-2A-Puro)

LV739633 1.0 ug DNA Ask for price

PARP4-AS1 Lentiviral Vector (Human) (CMV) (pLenti-GIII-CMV-RFP-2A-Puro)

LV739634 1.0 ug DNA Ask for price

Identifying hereditary cases of pancreatic cancer will help to offer more targeted treatments for patients and also to prevent cancer in family members who may be carriers of the mutation.